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Study reports two additional families with 18 affected individuals with nail (show CD244 Proteins) patella-like renal disease (NPLRD). The predominant LMX1B mutation is the previously reported R246Q mutation.
Study identified a novel heterozygous in-frame indel mutation of LMX1B in a family of Nail (show CD244 Proteins) patella syndrome.
9q33.3q34.11 microdeletion including LMX1b gene identified in four patients with intellectual disability, epilepsy, nail (show CD244 Proteins) dysplasia and bone malformations.
Report progression of autosomal dominant renal-limited disease with LMX1B mutation.
38 different LMX1B polymorphisms have been found in 55 families with Nail (show CD244 Proteins)-Patella Syndrome raising the hypothesis of a genetic heterogeneity.
Lmx1a (show LMX1A Proteins) and Lmx1b expression persists in mature dopaminergic neurons of the substantia nigra pars (show EPRS Proteins) compacta and the ventral tegmental area. [Review]
these results reveal a sustained and essential requirement of Lmx1b for the function of midbrain dopamine neurons
A heterozygous microdeletion of the entire LMX1B gene using multiplex ligation-dependent probe amplification (MLPA) in a Chinese family with nail (show CD244 Proteins) patella syndrome, is reported.
Results demonstrate that loss of function may not be the only way that mutated LMX1b causes haploinsufficiency. Mutated LMX1b may interfere withdownsteam transcription events.
In a large family with the two disorders with two novel frameshift TSC1 (show TSC1 Proteins) and LMX1B mutations, we describe the phenotypes
Data show that sustained expression of Lmx1a (show LMX1A Proteins) and Lmx1b is required for the survival of adult midbrain dopaminergic neurons.
Lmx1b is required for the topographical organization of dopaminergic innervation in the striatum.Lmx1b regulates Plxnc1 (show PLXNC1 Proteins) expression.
This is the first report to describe genome-wide Lmx1b binding during limb development.
Otx2 (show OTX2 Proteins) critically depends on Lmx1b for the formation of mdDA neurons.
results demonstrate an important role for the intersection of Lmx1b and Hoxb8 (show HOXB8 Proteins)::cre expression in the development of nociceptive dorsal horn circuits critical for mechanical and thermal pain processing.
Co-immunoprecipitation experiments show that both wild-type and Icst LMX1B are found in complexes with LIM domain binding protein 1 (LDB1 (show LDB1 Proteins)), resulting in lower levels of functional LMX1B in Icst heterozygotes than null heterozygotes
We posit that microRNA modulation of the Lmx1b/Wnt (show WNT2 Proteins) axis in the early midbrain/isthmus could determine midbrain size and allocation of dopamine progenitors.
Cell biological and biophysical experiments with primary podocytes isolated after 1 week of Lmx1b inactivation indicated dysregulation of actin cytoskeleton organization
Lmx1b, a key transcription factor for the specification of 5-HT (show DDC Proteins) and dopaminergic transmitter phenotypes during embryogenesis, determines some peptide phenotypes in these neurons as well.
Data indicate that tryptophan hydroxylase 2 Tph2 (show TPH2 Proteins)-/- and LIM homeobox transcription factor 1 beta Lmx1b-/- females displayed a change in sexual preference.
Lmx1ba and Lmx1bb function at least partially redundantly in the spinal cord and three functional lmx1b alleles are required in zebrafish for correct numbers of excitatory spinal interneurons at later developmental stages.
Lmx1b and FoxC have roles in regulating podocin expression in podocytes
lmx1b paralogues may contribute to the generation of diencephalic dopaminergic precursors
Results suggest that zebrafish lmx1b.1 and lmx1b.2 promote the survival of periocular mesenchymal cells that influence multiple signaling events required for proper ocular development.
Imx1b.2 regulation of wnt (show WNT2 Proteins) proteins, pax8 (show PAX8 Proteins) and fibroblast growth factor 8 (fgf8 (show FGF8 Proteins)) maintains cell survival in the isthmocerebellar region
The spontaneous calcium spike activity in the hindbrain of developing Xenopus laevis larvae modulates the specification of serotonergic neurons via regulation of expression of the Lmx1b transcription factor.
We have over-expressed lmx1b mRNA alone or in combination with potential interacting molecules and analysed the effects on embryonic kidney structures.
This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
LIM homeobox transcription factor 1-beta
, LIM/homeobox protein 1.2
, LIM/homeobox protein LMX1B
, LIM homeobox protein
, LIM/homeobox protein 1
, LIM/homeobox protein LMX-1.2
, homeobox protein LMX-1
, homeodomain protein (lmx)
, LIM homeobox transcription factor 1, beta
, LIM homeo box transcription factor 1B
, LIM homeobox transcription factor 1, beta 1
, LIM homeobox protein 1b
, LIM homeobox transcription factor 1-beta.1
, LIM homeobox transcription factor 1, beta 2
, LIM homeobox transcription factor 1, beta a
, LOW QUALITY PROTEIN: LIM homeobox transcription factor 1-beta